Associated Papers
Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.
Morabito LA et al.
Genes, 2022
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.
Rymen D et al.
Genes, 2019
31731524 (PubMed )
Supplement: genes-10-00843-s001.zip › Supplementary_data.pdf
Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.
Lu Y et al.
Intractable & Rare Diseases Research, 2019
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
Mackenroth L et al.
American Journal of Medical Genetics. Part A, 2016
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